Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

Case Report—Loyalty, Legacy, and Ledger: Contextual Therapy in a Patient with a Family History of Ovarian Cancer

A client's emotional experiences and reactions to those experiences are influenced by his/her family of origin and direct or indirect interactions with various family members. Contextual therapists propose that a client's satisfaction with a relationship depends on the equity of his/her emotional interactions with family members. When relationships are inequitable, trust between individuals disintegrates. In order to reestablish trust in a relationship, a balance of interests must be restored. If not, imbalances may be passed down to future generations. A case of a woman with a family history of ovarian cancer is reviewed with the principles of contextual therapy in mind. In her family, several legacies have resulted in unbalanced relationships between family members that lead to difficulty in establishing trust within the genetic counseling session.     

Attention and Memory in Children with Brain Tumors

The Rey Auditory Verbal Learning Test was utilized to examine attention, learning, and memory abilities in 42 children with cerebellar (N?=?18) and third ventricle tumors (N?=?24). Children with cerebellar tumors exhibited significant auditory attentional impairments and displayed adequate encoding and retrieval across subsequent learning and memory trials. In contrast, children with third ventricle tumors exhibited average auditory attentional abilities, but they displayed mild encoding deficits across trials 2–5. Furthermore, the third ventricle group's compromised performance on the delayed recall trial and average performance on the delayed recognition trial is suggestive of underlying retrieval deficits.     

Quality of life and mental health among women with ovarian cancer: examining the role of emotional and instrumental social support seeking

The purpose of the present study was to examine the role of emotional and instrumental social support seeking in the quality of life (QOL) and mental health of women with ovarian cancer. Participants were recruited through the Pennsylvania Cancer Registry, and one hundred women took part in a mail questionnaire that collected information on their demographics, medical status, social support seeking, QOL and mental health including anxiety, depression and stress. Hierarchical linear regression analyses were conducted to assess the influence of emotional and instrumental social support seeking on QOL and mental health. After controlling for remission status, greater emotional social support seeking was predictive of higher overall QOL, social/family QOL, functional QOL and lower depression scores. Instrumental social support seeking was not significant in the models. The results illustrate that social support seeking as a coping mechanism is an important consideration in the QOL and mental health of women with ovarian cancer. Future studies should examine the psychological and behavioral mediators of the relationship to further understand the QOL and mental health of women with ovarian cancer.     

丙戊酸增强人罗同巢癌耐药细胞株COC1／DDP对顺铂敏感性的研究

探讨丙戊酸是否增强COC1/DDP对顺铂的敏感性并初步探讨其机制。采用WST-1、流式细胞术、免疫细胞化学法。结果丙戊酸与顺铂联合对细胞生长抑制和凋亡诱导明显强于顺铂组;NF-κB P65的表达量顺铂组高于对照组,联合组明显低于顺铂组。因此,丙戊酸增强COC1/DDP对顺铂的敏感性,且与NF-κB有关。     

卵巢肿瘤蒂扭转急腹症诊治进展

卵巢肿瘤可因肿物扭转、破裂、出血等而导致剧烈腹痛、恶心呕吐、甚至出现失血性休克等急腹症的表现,是妇科临床常见的急腹症之一,有时容易误诊而导致严重后果。随着医疗水平的提高及微创观念的引入,目前对一些妇科急腹症如卵巢囊肿蒂扭转的处理等在诊断与治疗方面发生了很大的变化,现综述如下。     

肿瘤分子生物学行为与其影像表现关系的探讨

肿瘤基因表达与其影像表现有一定的相关性,为我们用无创的影像学方法显示肿瘤的生物学特征提供了可能。探寻肿瘤分子生物学特性与其影像表现的内在联系,以期对肿瘤浸润和转移做出正确的诊断,从而为临床选择治疗方案、判断疗效和评估预后等提供更多、更有价值的信息。     

骨盆测量在直肠癌手术中的应用进展

回顾当前各种骨盆测量手段,分析骨盆径线与直肠癌手术难度的关系。CT和MRI是目前直肠癌骨盆测量的较好选择,坐骨棘间径、坐骨结节间径、上耻骶尾骨最短径、骶尾骨长度和骶尾骨弯曲度等径线对直肠癌手术难度的影响已经得到了证实。未来的研究需要建立骨盆测量评价标准以指导临床医师制定手术方案。     

5-氨基酮戊酸光动力疗法对人卵巢癌细胞的杀伤作用及对HSP70和HIF～1α表达的影响

探讨5-氨基酮戊酸（5-aminolevulinicacid,5～ALA）光动力疗法（photodynamictherapy,PDT）对SKOV3细胞的杀伤作用及对HSP70和HIF-1α表达的影响。CCK-8法检测5～ALA—PDT对SKOV3细胞增殖的影响;荧光Real～timePCR法检测HSP70和HIF—1α...     

洛铂与顺铂联合培美曲塞一线治疗晚期肺腺癌的临床观察

观察洛铂与顺铂联合培美曲塞治疗晚期肺腺癌的疗效和不良反应。将64例肺腺癌患者分为PL组（培美曲塞＋洛铂）和PC组（培美曲塞＋顺铂）,每2个周期评价疗效,观察不良反应。结果两组疗效无显著差异。PL组恶心、呕吐、腹泻较轻,口腔黏膜炎反应较重。结论两组疗效相当,但洛铂组不良反应较轻,耐受性好。